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Atrial fibrillation, familial, 9(ATFB9)

MedGen UID:
462781
•Concept ID:
C3151431
•
Disease or Syndrome
Synonyms: ATFB9; KCNJ2-Related Familial Atrial Fibrillation
 
Gene (location): KCNJ2 (17q24.3)
 
Monarch Initiative: MONDO:0013513
OMIM®: 613980

Definition

Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. [from OMIM]

Additional description

From MedlinePlus Genetics
Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which cause a fast and irregular heartbeat. If untreated, this abnormal heart rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.  https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation

Clinical features

From HPO
Palpitations
MedGen UID:
14579
•Concept ID:
C0030252
•
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
See: Feature record | Search on this feature
Syncope
MedGen UID:
21443
•Concept ID:
C0039070
•
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
See: Feature record | Search on this feature
Paroxysmal atrial fibrillation
MedGen UID:
115990
•Concept ID:
C0235480
•
Disease or Syndrome
Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
See: Feature record | Search on this feature
Prolonged QTc interval
MedGen UID:
294666
•Concept ID:
C1560305
•
Pathologic Function
A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.
See: Feature record | Search on this feature
Permanent atrial fibrillation
MedGen UID:
750308
•Concept ID:
C2586056
•
Pathologic Function
Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Pulsed Field Ablation for the Treatment of Atrial Fibrillation: PULSED AF Pivotal Trial.
Verma A, Haines DE, Boersma LV, Sood N, Natale A, Marchlinski FE, Calkins H, Sanders P, Packer DL, Kuck KH, Hindricks G, Onal B, Cerkvenik J, Tada H, DeLurgio DB; PULSED AF Investigators
Circulation 2023 May 9;147(19):1422-1432. Epub 2023 Mar 6 doi: 10.1161/CIRCULATIONAHA.123.063988. PMID: 36877118Free PMC Article
Management of Atrial Fibrillation in 2021: An Updated Comparison of the Current CCS/CHRS, ESC, and AHA/ACC/HRS Guidelines.
Cheung CC, Nattel S, Macle L, Andrade JG
Can J Cardiol 2021 Oct;37(10):1607-1618. Epub 2021 Jun 26 doi: 10.1016/j.cjca.2021.06.011. PMID: 34186113
2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Arnett DK, Blumenthal RS, Albert MA, Buroker AB, Goldberger ZD, Hahn EJ, Himmelfarb CD, Khera A, Lloyd-Jones D, McEvoy JW, Michos ED, Miedema MD, Muñoz D, Smith SC Jr, Virani SS, Williams KA Sr, Yeboah J, Ziaeian B
Circulation 2019 Sep 10;140(11):e563-e595. Epub 2019 Mar 17 doi: 10.1161/CIR.0000000000000677. PMID: 30879339Free PMC Article

Curated

UK NICE Guideline NG196, Atrial fibrillation: diagnosis and management, 2021

Recent clinical studies

Etiology

Artificial intelligence-guided screening for atrial fibrillation using electrocardiogram during sinus rhythm: a prospective non-randomised interventional trial.
Noseworthy PA, Attia ZI, Behnken EM, Giblon RE, Bews KA, Liu S, Gosse TA, Linn ZD, Deng Y, Yin J, Gersh BJ, Graff-Radford J, Rabinstein AA, Siontis KC, Friedman PA, Yao X
Lancet 2022 Oct 8;400(10359):1206-1212. Epub 2022 Sep 27 doi: 10.1016/S0140-6736(22)01637-3. PMID: 36179758
Cryoballoon Ablation as Initial Treatment for Atrial Fibrillation: JACC State-of-the-Art Review.
Andrade JG, Wazni OM, Kuniss M, Hawkins NM, Deyell MW, Chierchia GB, Nissen S, Verma A, Wells GA, Turgeon RD
J Am Coll Cardiol 2021 Aug 31;78(9):914-930. doi: 10.1016/j.jacc.2021.06.038. PMID: 34446164
Atrial fibrillation and hyperthyroidism: A literature review.
Reddy V, Taha W, Kundumadam S, Khan M
Indian Heart J 2017 Jul-Aug;69(4):545-550. Epub 2017 Jul 5 doi: 10.1016/j.ihj.2017.07.004. PMID: 28822529Free PMC Article
The clinical profile and pathophysiology of atrial fibrillation: relationships among clinical features, epidemiology, and mechanisms.
Andrade J, Khairy P, Dobrev D, Nattel S
Circ Res 2014 Apr 25;114(9):1453-68. doi: 10.1161/CIRCRESAHA.114.303211. PMID: 24763464
Lenient versus strict rate control in patients with atrial fibrillation.
Van Gelder IC, Groenveld HF, Crijns HJ, Tuininga YS, Tijssen JG, Alings AM, Hillege HL, Bergsma-Kadijk JA, Cornel JH, Kamp O, Tukkie R, Bosker HA, Van Veldhuisen DJ, Van den Berg MP; RACE II Investigators
N Engl J Med 2010 Apr 15;362(15):1363-73. Epub 2010 Mar 15 doi: 10.1056/NEJMoa1001337. PMID: 20231232

Diagnosis

Artificial intelligence-guided screening for atrial fibrillation using electrocardiogram during sinus rhythm: a prospective non-randomised interventional trial.
Noseworthy PA, Attia ZI, Behnken EM, Giblon RE, Bews KA, Liu S, Gosse TA, Linn ZD, Deng Y, Yin J, Gersh BJ, Graff-Radford J, Rabinstein AA, Siontis KC, Friedman PA, Yao X
Lancet 2022 Oct 8;400(10359):1206-1212. Epub 2022 Sep 27 doi: 10.1016/S0140-6736(22)01637-3. PMID: 36179758
Atrial Fibrillation.
Erol Ç
Anatol J Cardiol 2022 Sep;26(9):672. doi: 10.5152/AnatolJCardiol.2022.9. PMID: 36044057Free PMC Article
Cryoballoon Ablation as Initial Treatment for Atrial Fibrillation: JACC State-of-the-Art Review.
Andrade JG, Wazni OM, Kuniss M, Hawkins NM, Deyell MW, Chierchia GB, Nissen S, Verma A, Wells GA, Turgeon RD
J Am Coll Cardiol 2021 Aug 31;78(9):914-930. doi: 10.1016/j.jacc.2021.06.038. PMID: 34446164
Atrial fibrillation and hyperthyroidism: A literature review.
Reddy V, Taha W, Kundumadam S, Khan M
Indian Heart J 2017 Jul-Aug;69(4):545-550. Epub 2017 Jul 5 doi: 10.1016/j.ihj.2017.07.004. PMID: 28822529Free PMC Article
The clinical profile and pathophysiology of atrial fibrillation: relationships among clinical features, epidemiology, and mechanisms.
Andrade J, Khairy P, Dobrev D, Nattel S
Circ Res 2014 Apr 25;114(9):1453-68. doi: 10.1161/CIRCRESAHA.114.303211. PMID: 24763464

Therapy

Intraoperative hypotension and postoperative outcomes: a meta-analysis of randomised trials.
D'Amico F, Fominskiy EV, Turi S, Pruna A, Fresilli S, Triulzi M, Zangrillo A, Landoni G
Br J Anaesth 2023 Nov;131(5):823-831. Epub 2023 Sep 20 doi: 10.1016/j.bja.2023.08.026. PMID: 37739903
Development and Validation of the DOAC Score: A Novel Bleeding Risk Prediction Tool for Patients With Atrial Fibrillation on Direct-Acting Oral Anticoagulants.
Aggarwal R, Ruff CT, Virdone S, Perreault S, Kakkar AK, Palazzolo MG, Dorais M, Kayani G, Singer DE, Secemsky E, Piccini J, Tahir UA, Shen C, Yeh RW
Circulation 2023 Sep 19;148(12):936-946. Epub 2023 Aug 25 doi: 10.1161/CIRCULATIONAHA.123.064556. PMID: 37621213Free PMC Article
Ablation Versus Drug Therapy for Atrial Fibrillation in Heart Failure: Results From the CABANA Trial.
Packer DL, Piccini JP, Monahan KH, Al-Khalidi HR, Silverstein AP, Noseworthy PA, Poole JE, Bahnson TD, Lee KL, Mark DB; CABANA Investigators
Circulation 2021 Apr 6;143(14):1377-1390. Epub 2021 Feb 8 doi: 10.1161/CIRCULATIONAHA.120.050991. PMID: 33554614Free PMC Article
Effect of Catheter Ablation vs Antiarrhythmic Drug Therapy on Mortality, Stroke, Bleeding, and Cardiac Arrest Among Patients With Atrial Fibrillation: The CABANA Randomized Clinical Trial.
Packer DL, Mark DB, Robb RA, Monahan KH, Bahnson TD, Poole JE, Noseworthy PA, Rosenberg YD, Jeffries N, Mitchell LB, Flaker GC, Pokushalov E, Romanov A, Bunch TJ, Noelker G, Ardashev A, Revishvili A, Wilber DJ, Cappato R, Kuck KH, Hindricks G, Davies DW, Kowey PR, Naccarelli GV, Reiffel JA, Piccini JP, Silverstein AP, Al-Khalidi HR, Lee KL; CABANA Investigators
JAMA 2019 Apr 2;321(13):1261-1274. doi: 10.1001/jama.2019.0693. PMID: 30874766Free PMC Article
The BRIDGE trial: What the hospitalist should know.
Nazha B, Spyropoulos AC
J Hosp Med 2016 Sep;11(9):652-7. Epub 2016 Apr 21 doi: 10.1002/jhm.2594. PMID: 27098835

Prognosis

Associations of Life's Essential 8 and fine particulate matter pollution with the incidence of atrial fibrillation.
Zhang J, Chen G, Xia H, Wang X, Wang C, Cai M, Gao Y, Lip GYH, Lin H
J Hazard Mater 2023 Oct 5;459:132114. Epub 2023 Jul 22 doi: 10.1016/j.jhazmat.2023.132114. PMID: 37494795
Epigenetic Age and the Risk of Incident Atrial Fibrillation.
Roberts JD, Vittinghoff E, Lu AT, Alonso A, Wang B, Sitlani CM, Mohammadi-Shemirani P, Fornage M, Kornej J, Brody JA, Arking DE, Lin H, Heckbert SR, Prokic I, Ghanbari M, Skanes AC, Bartz TM, Perez MV, Taylor KD, Lubitz SA, Ellinor PT, Lunetta KL, Pankow JS, Paré G, Sotoodehnia N, Benjamin EJ, Horvath S, Marcus GM
Circulation 2021 Dec 14;144(24):1899-1911. Epub 2021 Sep 30 doi: 10.1161/CIRCULATIONAHA.121.056456. PMID: 34587750Free PMC Article
Management of Atrial Fibrillation in the Athlete.
Raju H, Kalman JM
Heart Lung Circ 2018 Sep;27(9):1086-1092. Epub 2018 May 8 doi: 10.1016/j.hlc.2018.04.295. PMID: 29861323
Atrial Fibrillation in Hypertrophic Cardiomyopathy.
Vaidya K, Semsarian C, Chan KH
Heart Lung Circ 2017 Sep;26(9):975-982. Epub 2017 May 23 doi: 10.1016/j.hlc.2017.05.116. PMID: 28602671
Refining clinical risk stratification for predicting stroke and thromboembolism in atrial fibrillation using a novel risk factor-based approach: the euro heart survey on atrial fibrillation.
Lip GY, Nieuwlaat R, Pisters R, Lane DA, Crijns HJ
Chest 2010 Feb;137(2):263-72. Epub 2009 Sep 17 doi: 10.1378/chest.09-1584. PMID: 19762550

Clinical prediction guides

Blood-based cardiometabolic phenotypes in atrial fibrillation and their associated risk: EAST-AFNET 4 biomolecule study.
Fabritz L, Chua W, Cardoso VR, Al-Taie C, Borof K, Suling A, Krause L, Kany S, Magnussen C, Wegscheider K, Breithardt G, Crijns HJGM, Camm AJ, Gkoutos G, Ellinor PT, Goette A, Schotten U, Wienhues-Thelen UH, Zeller T, Schnabel RB, Zapf A, Kirchhof P
Cardiovasc Res 2024 Jul 2;120(8):855-868. doi: 10.1093/cvr/cvae067. PMID: 38613511Free PMC Article
Clinical Phenotypes and Atrial Fibrillation Recurrences After Catheter Ablation: An Unsupervised Cluster Analysis.
Bisson A, Fawzy AM, El-Bouri W, Angoulvant D, Lip GYH, Fauchier L, Clementy N
Curr Probl Cardiol 2023 Aug;48(8):101732. Epub 2023 Mar 31 doi: 10.1016/j.cpcardiol.2023.101732. PMID: 37003451
Atrial conduction time associated predictors of recurrent atrial fibrillation.
Karantoumanis I, Doundoulakis I, Zafeiropoulos S, Oikonomou K, Makridis P, Pliakos C, Karvounis H, Giannakoulas G
Int J Cardiovasc Imaging 2021 Apr;37(4):1267-1277. Epub 2021 Jan 3 doi: 10.1007/s10554-020-02113-y. PMID: 33389363
An artificial intelligence-enabled ECG algorithm for the identification of patients with atrial fibrillation during sinus rhythm: a retrospective analysis of outcome prediction.
Attia ZI, Noseworthy PA, Lopez-Jimenez F, Asirvatham SJ, Deshmukh AJ, Gersh BJ, Carter RE, Yao X, Rabinstein AA, Erickson BJ, Kapa S, Friedman PA
Lancet 2019 Sep 7;394(10201):861-867. Epub 2019 Aug 1 doi: 10.1016/S0140-6736(19)31721-0. PMID: 31378392
Is echocardiography valid and reproducible in patients with atrial fibrillation? A systematic review.
Kotecha D, Mohamed M, Shantsila E, Popescu BA, Steeds RP
Europace 2017 Sep 1;19(9):1427-1438. doi: 10.1093/europace/eux027. PMID: 28387802Free PMC Article

Recent systematic reviews

Colchicine for cardiovascular medicine: a systematic review and meta-analysis.
Casula M, Andreis A, Avondo S, Vaira MP, Imazio M
Future Cardiol 2022 Aug;18(8):647-659. Epub 2022 Jul 5 doi: 10.2217/fca-2020-0206. PMID: 35787150
Effect of Long-Term Marine ɷ-3 Fatty Acids Supplementation on the Risk of Atrial Fibrillation in Randomized Controlled Trials of Cardiovascular Outcomes: A Systematic Review and Meta-Analysis.
Gencer B, Djousse L, Al-Ramady OT, Cook NR, Manson JE, Albert CM
Circulation 2021 Dec 21;144(25):1981-1990. Epub 2021 Oct 6 doi: 10.1161/CIRCULATIONAHA.121.055654. PMID: 34612056Free PMC Article
Intravenous magnesium in the management of rapid atrial fibrillation: A systematic review and meta-analysis.
Ramesh T, Lee PYK, Mitta M, Allencherril J
J Cardiol 2021 Nov;78(5):375-381. Epub 2021 Jun 20 doi: 10.1016/j.jjcc.2021.06.001. PMID: 34162502
Mobile Apps to Improve Medication Adherence in Cardiovascular Disease: Systematic Review and Meta-analysis.
Al-Arkee S, Mason J, Lane DA, Fabritz L, Chua W, Haque MS, Jalal Z
J Med Internet Res 2021 May 25;23(5):e24190. doi: 10.2196/24190. PMID: 34032583Free PMC Article
Thyroid Function Within the Normal Range, Subclinical Hypothyroidism, and the Risk of Atrial Fibrillation.
Baumgartner C, da Costa BR, Collet TH, Feller M, Floriani C, Bauer DC, Cappola AR, Heckbert SR, Ceresini G, Gussekloo J, den Elzen WPJ, Peeters RP, Luben R, Völzke H, Dörr M, Walsh JP, Bremner A, Iacoviello M, Macfarlane P, Heeringa J, Stott DJ, Westendorp RGJ, Khaw KT, Magnani JW, Aujesky D, Rodondi N; Thyroid Studies Collaboration
Circulation 2017 Nov 28;136(22):2100-2116. Epub 2017 Oct 23 doi: 10.1161/CIRCULATIONAHA.117.028753. PMID: 29061566Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2021
      UK NICE Guideline NG196, Atrial fibrillation: diagnosis and management, 2021

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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